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Incontinentia Pigmenti: Case report and Literature review

Incontinentia Pigmenti: Case report and Literature review. 高雄榮民總醫院皮膚科 黃郁菁 陳雅惠 羅珮瑜 宗天一. Basic information. Age: 4 day-old Gender: female Birth history: Mother age: 33 year-old G2P1A1, GA: 38+ weeks, BBM: 3440 gm, via C/S without perinatal insult. Chief complaint:.

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Incontinentia Pigmenti: Case report and Literature review

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  1. Incontinentia Pigmenti: Case report and Literature review 高雄榮民總醫院皮膚科 黃郁菁 陳雅惠 羅珮瑜 宗天一

  2. Basic information • Age: 4 day-old • Gender: female • Birth history: Mother age: 33 year-old G2P1A1, GA: 38+ weeks, BBM: 3440 gm, via C/S without perinatal insult

  3. Chief complaint: • Numerous small red infiltrative papules and confluent into plaques since birth • The papaules and plaques became vesicles 4 days after birth; spread over trunk, perineal area, four limbs ; less on abdomen, worse over dependent site

  4. Present illness • No fever, No oral ulcer Darier’s sign: negative, • Lab data:

  5. Differential diagnosis • Incontinential pigmenti • Epidermolysis bullosa • Erythema toxicum neonatorum • Viral exanthem ( HSV IgM: negative)

  6. Histology

  7. Progress 2 weeks later 4 weeks later

  8. 2 weeks later Progress 4 weeks later

  9. 6 months later Progress

  10. Histology

  11. Family history Hypopigmentation over axillae; alopecia; dental carriers

  12. Ophthalmology finding • 1 month-old → Retinal hemorrhage with VH, OD • 3 month-old →Retinal detachment, OD post pan- retinal laser photocoagulation

  13. Diagnosis and Treatment • Incontinentia pigmenti • Treatment : ＃Skin: applied with topical steroid; ＃ Consult ophthalmologist immediately after diagnosis ＃Be ware of neurology symptoms and dentition

  14. Discussion • Occuring in 1 in 50000 newborns • X-linked dominant systemic disorder • IP1 and IP2 Cutis, May 2007; Vol. 79, P.355

  15. ＊Only females (37:1) ＊ Rare males( XXY, somatic mosaicism, hypomorphic allele) Pathophysiology Mutation of gene for NEMO (Located on Xq28) ↓ Inactivate the transcription factor nuclear factor KB (NF-kb) ↓ Cells lack of protection from apoptosis in response to TNF-alpha ↓ Teeth Eye Skin, hair, nail Neurologic defect

  16. Nature Vol 405 25 May 2000 J Am ACAD Dermtaol August, 2002; 47: 169-87

  17. Clinical presentation-Skin (Stage I) • At birth or shortly thereafter; 90% • Liner arrangements of erythema, vesicles, and pustules, and occasionally bullae follow lines of Blaschko • Usually clear by 4-month old; may reactive following infectious event Spongiotic dermatitis with numerous eosinophils, vacuolated basal cells

  18. Clinical presentation-Skin (Stage II) Papillated epidermal hyperplasia, with dyskeratotic cells, hyperkeratosis, acanthosis 1.beginning approximately 2-6 weeks; resolve before 6 month; 70 % 2.Linear verrucous cluster of papulonodules

  19. Clinical presentation-Skin (Stage III) 1.Beginning approximately at age 12 to 40 weeks ; resolve in puberty ; 98 % 2.Macular hyperpigmentation in a swirled pattern along the lines of Blaschko 3.Often involve nipples, axillae, groin Thickened papillary dermis; many melanophage, deposit of melanin in dermis

  20. Clinical presentation • Stage IV →Hypopigmentation; 42 % →Present from early teens through adulthood • Hair: Diffuse scarring alopecia; often on the vertex • Nail: Onychodystrophy can involve all of the fingernails and toenails • Teeth: Delayed dentition; anodontia; hypodontia; misplaced and deformed teeth • Occular manisfestations: Strabismus; retinal detachment; peripheral retinal avascularity; preretinal fibrovascular proliferation with vitreous hemorrhage Cutis, May 2007; Vol. 79, P.355

  21. Clinical presentation • Neurologic manifestation: occurring in approximately 1/3 of cases Seizures may be the dominant features • Immunologic derangements: related to cutaneous and pulmonary TB associated with male cases of IP and the related syndromes of ectodermal dysplasia and immunodeficiency (EDA-ID) • Other manifestations:  cardiovascular: ex: pulmonary hypertension Muscular system: ex: short limbs Cutis, May 2007; Vol. 79, P.355

  22. Landy and Donnai diagnostic criteria (1993)

  23. Advances in genetic and pathophysiology • NEMO (nuclear factor κB essential modulator) or IKKγ (γ-subunit of the inhibitor κB kinase) IκB (inhibitor κB ) IKK (inhibitor κB kinase) IKK : IKK α, IKKβ (catalytic) IKK γ (modulator) NF- κB (Nuclear factor κB ) Regular inflammation, confer antiapoptotic reaction

  24. Treatment • Skin: do not require specific treatment, spontaneous resolution ＊Vesicular stage is best managed with sterile dressings to prevent bacterial superinfection ＊Use of lasers in the treatment of hyperpigmentation should be discouraged (Australas Dermatol 1997; 38:155-7) • Nail: subungual and periungual tumors must be managed promptly (surgical excision, following bony curettage) • Consult Ophthalmologist immediately after diagnosis • Consult Neurologist if neurologic symptoms present

  25. Thanks for your attention

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